A scoping review presenting a wide variety of research on paediatric and adolescent patients with Marfan syndrome

Abstract

Aim: The present study aimed to map and summarise the research on children, aged 0-18 years, with Marfan syndrome, identify research gaps and point to research agendas.

Methods: A scoping review was systematically performed by searching multiple databases from January 1996 to April 2019. Primary studies presenting results on at least six individuals aged 0-18 years with Marfan syndrome, diagnosed according to the Ghent nosology, were selected.

Results: From 2341 de-duplicated records, 92 papers were included, mapped and described. Their topics were diagnostics (12%), cardiovascular matters (50%), skeletal matters (22%), ocular matters (9%), other medical aspects (5%) and psychosocial perspectives (2%). Most studies were from Europe and North America and published between 1999 and 2019 in subject-specific or paediatric journals, while a few were published in genetics journals. All studies had quantitative designs, and very few were multicentre studies. Each study had six to 608 subjects for a total of approximately 5809.

Conclusion: A wide range of research topics on adolescent and paediatric Marfan syndrome was found, but qualitative studies and a focus on psychosocial matters were lacking. Future investigations addressing noncardiovascular consequences and patient experiences are needed, as well as studies reaffirming or replicating existing intervention study results.

Keywords: Marfan syndrome; adolescents; children; connective tissue disorder; scoping review.